19p13.2 microdeletions - Unique The Rare Chromosome Disorder ...

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• Eyesight Eight of the nine Unique members have eye prescriptions, including four for astigmatism. Eye problems are common in children with a 19p13.2 microdeletion. Four are long-sighted (hyperopia) and four have astigmatism. The main symptom of astigmatism is blurred vision. It occurs because the cornea at the front of the eye is unevenly curved (Haberlandt 2012, Unique). One child has also got ocular albinism (reduced pigment in the eyes causing poor eyesight) and nystagamus (uncontrolled movement of the eyes). Another has nystagamus in both eyes. Glasses are worn by many of these children (Unique). He is very far-sighted and wears glasses. He had ‘lazy eyes’ and has had surgery to tighten the eye muscles, so his eyes are straight – 16 years Two children have strabismus (a squint) (Lysy 2009, Decipher) and two other children are described as having a visual impairment, the precise details of which are not known (Decipher). • Feet and hands One child has inward – turning talipes (clubfoot) which had corrected itself by nine months. Another child had ankle and feet orthotics (an externally applied device used to modify the structural and functional characteristics of the neuromuscular and skeletal systems) to help her walk. Two other children have very small hands and feet (Haberlandt 2012, Unique,), one has short toes (Decipher) and one has deep skin folds in the feet and hands (Lysy 2009). A single strong line across the palm of the hand (single transverse palmar crease) was found in one child; this is commonly found in 5 per cent of people unaffected by a chromosome disorder (Decipher). • Facial features Most children with a 19p13.2 microdeletion will not look different from other children or other family members. Some, approximately half, have slightly unusual features, such as: a prominent forehead, widely-spaced eyes or unusually-shaped/low set ears. One child has plagiocephaly (a flattened area of the head), which has been partially corrected with a DOC band helmet (an outer plastic shell with a foam lining, made specifically for each child. It works by applying mild pressure and directing the growth of the head. This method directs growth to the flat regions and discourages it in any prominent areas (Lysy 2009, Haberlandt 2012, Decipher, Unique). • Skeletal One three year child had quite pronounced asymmetric pectus excavatum, a chest that is sunken inwards, such that one side of the chest is higher than the other; this was 20
eported not to affect their breathing (Unique). In the medical literature, an individual with a deletion extending into the neighbouring 19p13.13 region had a curved upper spine (kyphosis) and craniosynostosis (an irregularly-shaped skull). This child also had microcephaly, a small head, and arthrogryposis of the lower limbs (a neuro-musculoskeletal disorder that affects various joints in the body) (Lysy 2009). A curved upper spine is also reported in another child (Decipher). Scoliosis (a curved spine) and pectus carinatum (pigeon chest – protrusion of the sternum and ribs) occurs in one child, who has frequent fractures (Decipher). Other medical concerns are described with low frequency, or occur quite commonly in the general population, and also may not be related to the microdeletion of 19p13.2. Four boys have hypospadias (Unique, Decipher). This is a relatively common birth defect, affecting between 1 in 125 and 1 in 300 male babies. It occurs when the hole through which urine and semen leave the body is not located at the tip of the head of the penis. Surgery is sometimes used to correct the defect. Another Unique member had undescended testicles and double hernias. Surgery was performed at six weeks old. One Unique member had developed kidney stones at six years and has about one stone a year. He has haematuria (blood in the urine), lowered kidney function and recurrent urinary tract infections, requiring antibiotic treatment. Small kidney stones (less than 5mm) can be passed in the urine; larger stones may need hospital treatment. For example, lithotripsy, high energy shock waves, can be used to break the stone into smaller pieces which can be passed painlessly in the urine. Another child has had kidney cysts recently diagnosed (at 16 years old) (Unique). One child has mild cerebral palsy (Unique). This is one of a group of neurological conditions (affecting the brain and nervous system) that influence a child’s movement and co-ordination. Cerebral palsy is caused by damage to the brain, which normally occurs before, during or soon after birth. A team of specialists, for example, speech therapists, occupational therapists, physiotherapists and a paediatrician may be involved in treating cerebral palsy. Transient erythroblastopenia of childhood (TEC) was diagnosed in one child with a microdeletion of 19p13.2 (Unique). This is a slowly developing anaemia that occurs in early childhood and is characterized by an increasingly pale skin. The child was given a blood transfusion. As the name suggests, patients with TEC recover completely. One teenager has had dysfunctional menstrual bleeding and has been diagnosed with von Willebrand disease (Unique). People with this condition either have a deficiency of a blood protein called von Willebrand factor, or this protein doesn't work correctly. It means that their blood doesn’t clot properly and they are prone to bleeding. It is an inherited condition and 1-2 per cent (1-2 in 100 people) of the UK population has reduced levels of von Willebrand factor; however, only about 1 in 1000 people has symptoms that might require medical attention. Two Unique members have hypothyroidism, an underactive thyroid gland. This is a condition in which there is a reduced level of thyroid hormone (thyroxine) in the body. Various symptoms result, the most common being: tiredness, weight gain, constipation, aches, dry skin, lifeless hair and feeling cold. Hypothyroidism can be successfully treated by a daily tablet to replace the missing thyroxine. Two children have high cholesterol. One of these also has low testosterone and coeliac disease (a common digestive condition where a person has an adverse reaction to gluten; 21
Page 1 and 2: 19p13.2 microdeletions rarechromo.o
Page 3 and 4: Looking at chromosome 19p13.2 Each
Page 5 and 6: children’s ability to learn. Lear
Page 7 and 8: low birth weights that are often a
Page 9 and 10: Occupational therapy and physiother
Page 11 and 12: His speech is somewhat understandab
Page 13 and 14: She has very challenging behaviour,
Page 15 and 16: ehaviours - 7 years Although child
Page 17 and 18: SEN. He has a good memory for peopl
Page 19: As a newborn, she didn’t sleep fo
Page 23 and 24: Speech and language therapy (SALT):
Page 25 and 26: One 16 year old girl started menstr
Page 27 and 28: Notes 27

19p13.2 microdeletions - Unique The Rare Chromosome Disorder ...

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